ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1346C>T (p.Pro449Leu)

gnomAD frequency: 0.00001  dbSNP: rs780779080
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001913947 SCV002195403 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 449 of the MFSD8 protein (p.Pro449Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs780779080, ExAC 0.01%). This variant has not been reported in the literature in individuals with MFSD8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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